ClinVar Miner

Submissions for variant NM_001008212.2(OPTN):c.1330A>G (p.Met444Val)

gnomAD frequency: 0.00001  dbSNP: rs900961302
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001973612 SCV002260626 uncertain significance Primary open angle glaucoma; Amyotrophic lateral sclerosis type 12; Glaucoma 1, open angle, E 2022-11-02 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 444 of the OPTN protein (p.Met444Val). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with OPTN-related conditions. ClinVar contains an entry for this variant (Variation ID: 1474749). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt OPTN protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Athena Diagnostics RCV002473343 SCV002771214 uncertain significance not provided 2021-10-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV004042274 SCV004993164 uncertain significance Inborn genetic diseases 2023-12-15 criteria provided, single submitter clinical testing The c.1330A>G (p.M444V) alteration is located in exon 11 (coding exon 10) of the OPTN gene. This alteration results from a A to G substitution at nucleotide position 1330, causing the methionine (M) at amino acid position 444 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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